SEGREGATION ANALYSIS OF PERIPHERAL NEUROFIBROMATOSIS (NF1)

被引：41

作者：

LITTLER, M ^{[1
]}

MORTON, NE ^{[1
]}

机构：

[1] SOUTHAMPTON GEN HOSP, DEPT COMMUNITY MED, CLIN RES CTR, GENET EPIDEMIOL RES GRP, SOUTHAMPTON SO9 4XY, HANTS, ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 05期

关键词：

D O I：

10.1136/jmg.27.5.307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Four studies of NF1 support a prevalence of 0.0003 and a carrier incidence at birth of 0.0004. The gene frequency (q) is therefore 0.0002, and the proportion of cases owing to fresh mutation is 0.56. The mutation rate (xq) is 10-4, an unusually high value suggestive of a large gene. Penetrance among subjects examined is virtually complete, and there is no evidence of phenocopies or somatic mutations.

引用

页码：307 / 310

页数：4

共 12 条

[1]

BARRAI I, 1965, AM J HUM GENET, V17, P221

[2]

Borberg A, 1951, ACTA PSYCH NEUROL SC, V71, P11

[3]

Crowe FW SW, 1956, CLIN PATHOLOGICAL GE

[4] A GENETIC-STUDY OF VONRECKLINGHAUSEN NEUROFIBROMATOSIS IN SOUTH EAST WALES .1. PREVALENCE, FITNESS, MUTATION-RATE, AND EFFECT OF PARENTAL TRANSMISSION ON SEVERITY [J].